Hypophosphatemia and growth

Pediatric Nephrology

Volumn 28, Issue 4, 2013, Pages 595-603

  Santos, Fernando ^a   Fuente, Rocío ^a   Mejia, Natalia ^a   Mantecon, Laura ^a   Gil Peña, Helena ^a   Ordoñez, Flor A ^a  

^a HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

Author keywords

FGF23; Growth; Growth hormone; Growth plate; Hyp mice; Hypophosphatemia; Rickets; Vitamin D

Indexed keywords

FIBROBLAST GROWTH FACTOR 23; HUMAN GROWTH HORMONE; PHOSPHATE; VITAMIN D DERIVATIVE; FIBROBLAST GROWTH FACTOR; PHEX PROTEIN, MOUSE; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; RECOMBINANT PROTEIN; VITAMIN;

BONE GROWTH; BONE METABOLISM; BONE MINERALIZATION; CHILD GROWTH; CHILDHOOD DISEASE; GROWTH PLATE; GROWTH RATE; GROWTH RETARDATION; HOMEOSTASIS; HUMAN; HYPOPHOSPHATEMIA; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SHORT STATURE; X LINKED HYPOPHOSPHATEMIC RICKETS; ANIMAL; BODY HEIGHT; BONE; BONE DEVELOPMENT; DIET SUPPLEMENTATION; DISEASE MODEL; GENETICS; GROWTH DISORDER; METABOLISM; MOUSE; PATHOPHYSIOLOGY; TRANSGENIC MOUSE;

ANIMALS; BODY HEIGHT; BONE AND BONES; BONE DEVELOPMENT; DIETARY SUPPLEMENTS; DISEASE MODELS, ANIMAL; FIBROBLAST GROWTH FACTORS; GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MICE; MICE, TRANSGENIC; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PHOSPHATES; RECOMBINANT PROTEINS; VITAMINS;

MLCS; MLOWN;

EID: 84879893709     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-012-2364-9     Document Type: Review

References (75)

1. Naderi ASA, Reilly RF (2010) Hereditary disorders of renal phosphate wasting. Nat Rev Nephrol 6:657-665
2. Bistarakis L, Voskaki I, Lambadaridis J, Sereti H, Sbyrakis S (1986) Renal handling of phosphate in the first six months of life. Arch Dis Child 61:677-681
3. Lyon AJ, Mcintosh N (1984) Calcium and phosphorus balance in extremely low birth weight infants in the first six weeks of life. Arch Dis Child 59:1145-1150
4. Thalassinos NC, Leese B, Lathan SC, Joplin GF (1970) Urinary excretion of phosphate in normal children. Arch Dis Child 46:269-272
5. Cirillo M, Ciacci C, De Santo NG (2008) Age, renal tubular phosphate reabsorption, and serum phosphate levels in adults. N Engl J Med 359:864-866
6. DOQI http://www.kidney.org/professionals/kdoqi/guidelines-pedbone/guide4. htm Accessed 24 January 2012.
7. Francis F (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet 11:130-136
8. Francis F, Strom TM, Hennig S, Böddrich A, Lorenz B, Brandau O, Mohnike KL, Cagnoli M, Steffens C, Klages S, Borzym K, Pohl T, Oudet C, Econs MJ, Rowe PS, Reinhardt R, Meitinger T, Lehrach H (1997) Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res 7:573-585
9. Gaucher C, Walrant-Debray O, Nguyen TM, Esterle L, Garabédian M, Jehan F (2009) PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Hum Genet 125:401-411
10. Econs M, McEnery P (1997) Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate wasting disorder. J Clin Endocrinol Metab 82:674-681
11. The ADHR Consortium (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF 23. Nat Genet 26:345-348
12. Lorenz-Depiereux B, Bastepe M, Benet-Pagès A, Amyere M, Wagenstaller J, Müller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Jüppner H, Strom TM (2006) DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 38:1248-1250
13. Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, Yu X, Rauch F, Davis SI, Zhang S, Rios H, Drezner MK, Quarles LD, Bonewald LF, White KE (2006) Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet 38:1310-1315
14. Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Höhne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nürnberg P (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet 34:379-381
15. Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM (2010) Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 86:267-272
16. Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R (2010) Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet 86:273-278
17. Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 90:25-39
18. Miedlich SU, Zhu ED, Sabbaggh Y, Demay MB (2010) The receptor-dependent actions of 1,25-dihydroxyvitamin D are required for normal growth plate maturation in NPt2a knockout mice. Endocrinology 151:4607-4612
19. Farrow EG, Yu X, Summers LJ, Davis SI, Fleet JC, Allen MR, Robling AG, Stayrook KR, Jideonwo V, Magers MJ, Garringer HJ, Vidal R, Chan RJ, Goodwin CB, Hui SL, Peacock M, White KE (2011) Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice. Proc Natl Acad Sci U S A 108:E1146-E1155
20. Negri AL, Negrotti T, Alonso G, Pasqualini T (2004) Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation in one family. Medicina (B Aires) 64:103-106
21. Gribaa M, Younes M, Bouyacoub Y, Korbaa W, Ben Charfeddine I, Touzi M, Adala L, Mamay O, Bergaoui N, Saad A (2010) An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation. J Bone Miner Metab 28:111-115
22. Sun Y, Wang O, Xia W, Jiang Y, Li M, Xing X, Hu Y, Liu H, Meng X, Zhou X (2012) FGF23 analysis of a Chinese family with autosomal dominant hypophosphatemic rickets. J Bone Miner Metab 30:78-84
23. Larsson T, Marsell R, Schipani E, Ohlsson C, Ljunggren O, Tenenhouse HS, Jüppner H, Jonsson KB (2004) Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis. Endocrinology 145:3087-3094
24. Tieder M, Modai D, Shaked U, Samuel R, Arie R, Halabe A, Maor J, WeissgartenJ, J, Averbukh Z, Cohen N, Edelstein S, Liberman UA (1987) "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets: two phenotypical expressions of a common genetic defect. N Engl J Med 316:125-129
25. Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (2006) SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet 78:179-192
26. Mejia-Gaviria N, Gil-Peña H, Coto E, Pérez-Menéndez TM, Santos F (2010) Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. Orphanet J Rare Dis 5:1
27. Segawa H, Onitsuka A, Furutani J, Kaneko I, Aranami F, Matsumoto N, Tomoe Y, Kuwahata M, Ito M, Matsumoto M, Li M, Amizuka N, Miyamoto K (2009) Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development. Am J Physiol Renal Physiol 297:F671-F678
28. Segawa H, Kaneko I, Takahashi A, Kuwahata M, Ito M, Ohkido I, Tatsumi S, Miyamoto K (2002) Growth-related renal type II Na/Pi cotransporter. J Biol Chem 277:19665-19672
29. Makras P, Hamdy NAT, Kant SG, Papapoulos SE (2008) Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. J Clin Endocrinol Metab 93:1386-1389
30. Zivičnjak M, Schnabel D, Billing H, Staude H, Filler G, Querfeld U, Schumacher M, Pyper A, Schröder C, Brämswig J, Haffner D, Hypophosphatemic Rickets Study Group of Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie (2011) Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets. Pediatr Nephrol 26:223-231
31. Mäkitie O, Doria A, Kooh SW, Cole WG, Daneman A, Sochett E (2003) Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 88:3591-3597
32. Schütt SM, Schumacher M, Holterhus PM, Felgenhauer S, Hiort O (2003) Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency. Eur J Endocrinol 149:317-321
33. Baroncelli GI, Bertelloni S, Ceccarelli C, Saggese G (2001) Effect of growth hormone treatment on final height, phosphate metabolism, and bone mineral density in children with X-linked hypophosphatemic rickets. J Pediatr 138:236-243
34. Haffner D, Nissel R, Wühl E, Mehls O (2004) Effects of growth hormone treatment on body proportions and final height among small children with X-linked hypophosphatemic rickets. Pediatrics 113:e593
35. Sochett E, Doria AS, Henriques F, Kooh SW, Daneman A, Mäkitie O (2004) Growth and metabolic control during puberty in girls with X-linked hypophosphataemic rickets. Horm Res 61:252-256
36. McNair SL, Stickler GB (1969) Growth in familial hypophosphatemic vitamin-D-resistant rickets. N Engl J Med 281:511-516
37. Jehan F, Gaucher C, Nguyen TM, Walrant-Debray O, Lahlou N, Sinding C, Déchaux M, Garabédian M (2008) Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. J Clin Endocrinol Metab 93:4672-4682
38. Quinlan C, Guegan K, Offiah A, Neill RO, Hiorns MP, Ellard S, Bockenhauer D, Hoff WV, Waters AM (2012) Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment. Pediatr Nephrol 27:581-588
39. Strom TM, Francis F, Lorenz B, Böddrich A, Econs MJ, Lehrach H, Meitinger T (1997) Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum Mol Genet 6:165-171
40. Eicher EM, Southard JL, Scriver CR, Glorieux FH (1976) Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets (X-linkage/phosphate transport/animal model). Proc Natl Acad Sci USA 73:4667-4671
41. Yuan B, Takaiwa M, Clemens TL, Feng JQ, Kumar R, Rowe PS, Xie Y, Drezner MK (2008) Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. J Clin Invest 118:722-734
42. Tenenhouse HS (1999) X-linked hypophosphataemia: a homologous disorder in humans and mice. Nephrol Dial Transplant 14:333-341
43. Ranch D, Zhang MYH, Portale AA, Perwad F (2011) Fibroblast growth factor 23 regulates renal 1,25-dihydroxyvitamin D and phosphate metabolism via the MAP kinase signaling pathway in Hyp mice. J Bone Miner Res 26:1883-1890
44. Tenenhouse HS, Martel J, Gauthier C, Segawa H, Miyamoto K (2003) Differential effects of Npt2a gene ablation and X-linked Hyp mutation on renal expression of Npt2c. Am J Physiol Renal Physiol 285:F1271-F1278
45. Baum M, Loleh S, Saini N, Seikaly M, Dwarakanath V, Quigley R (2003) Correction of proximal tubule phosphate transport defect in Hyp mice in vivo and in vitro with indomethacin. Proc Natl Acad Sci USA 100:11098-11103
46. Sabbagh Y, Carpenter TO, Demay MB (2005) Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. Proc Natl Acad Sci USA 102:9637-9642
47. Qiu ZQ, Travers R, Rauch F, Glorieux FH, Scriver CR, Tenenhouse HS (2004) Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice. Bone 34:134-139
48. Carbajo E, López JM, Santos F, Ordóñez FA, Niño P, Rodríguez J (2001) Histologic and dynamic changes induced by chronic metabolic acidosis in the rat growth plate. J Am Soc Nephrol 12:1228-1234
49. Alvarez-Garcia O, Carbajo-Pérez E, Garcia E, Gil H, Molinos I, Rodriguez J, Ordoñez FA, Santos F (2007) Rapamycin retards growth and causes marked alterations in the growth plate of young rats. Pediatr Nephrol 22:954-961
50. Gil-Peña H, Garcia-Lopez E, Alvarez-Garcia O, Loredo V, Carbajo-Perez E, Ordoñez FA, Rodriguez-Suarez J, Santos F (2009) Alterations of growth plate and abnormal insulin-like growth factor I metabolism in growth-retarded hypokalemic rats: effect of growth hormone treatment. Am J Physiol Renal Physiol 297:F639-F645
51. Santos F, Carbajo-Pérez E, Rodríguez J, Fernández-Fuente M, Molinos I, Amil B, García E (2005) Alterations of the growth plate in chronic renal failure. Pediatr Nephrol 20:330-334
52. Martin A, David V, Laurence JS, Schwarz PM, Lafer EM, Hedge AM, Rowe PS (2008) Degradation of MEPE, DMP1, and release of SIBLING ASARM-peptides (minhibins): ASARM-peptide(s) are directly responsible for defective mineralization in HYP. Endocrinology 149:1757-1772
53. Argiro L, Desbarats M, Glorieux FH, Ecarot B (2001) Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone. Genomics 74:342-351
54. Rowe PSN, Garrett IR, Schwarz PM, Carnes DL, Lafer EM, Mundy GR, Gutierrez GE (2005) Surface plasmon resonance (SPR) confirms MEPE binds to PHEX via the MEPE-ASARM motif: a model for impaired mineralization in X-linked rickets (HYP). Bone 36:33-46
55. Liu S, Brown TA, Zhou J, Xiao ZS, Awad H, Guilak F, Quarles LD (2005) Role of matrix extracellular phosphoglycoprotein in the pathogenesis of X-linked hypophosphatemia. J Am Soc Nephrol 16:1645-1653
56. Liu S, Guo R, Quarles LD (2001) Cloning and characterization of the proximal murine Phex promoter. Endocrinology 142:3987-3995
57. Miao D, Bai X, Panda DK, Karaplis AC, Goltzman D, McKee MD (2004) Cartilage abnormalities are associated with abnormal Phex expression and with altered matrix protein and MMP-9 localization in Hyp mice. Bone 34:638-647
58. Lazarus JE, Hegde A, Andrade AC, Nilsson O, Baron J (2007) Fibroblast growth factor expression in the postnatal growth plate. Bone 40:577-586
59. Liu S, Tang W, Fang J, Ren J, Li H, Xiao Z, Quarles LD (2009) Novel regulators of Fgf23 expression and mineralization in Hyp bone. Mol Endocrinol 23:1505-1518
60. Faul C, Amaral AP, Oskouei B, Hu MC, Sloan A, Isakova T, Gutiérrez OM, Aguillon-Prada R, Lincoln J, Hare JM, Mundel P, Morales A, Scialla J, Fischer M, Soliman EZ, Chen J, Go AS, Rosas SE, Nessel L, Townsend RR, Feldman HI, St John Sutton M, Ojo A, Gadegbeku C, Di Marco GS, Reuter S, Kentrup D, Tiemann K, Brand M, Hill JA, Moe OW, Kuro-O M, Kusek JW, Keane MG, Wolf M (2011) FGF23 induces left ventricular hypertrophy. J Clin Invest 121:4393-4408
61. Wu S, Levenson A, Kharitonenkov A, De Luca F (2012) Fibroblast growth factor 21 (FGF21) inhibits chondrocyte function and growth hormone action directly at the growth plate. J Biol Chem 287:26060-26067
62. Petersen DJ, Boniface AM, Schranck FW, Rupich RC, Whyte MP (1992) X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. J Bone Miner Res 7:583-597
63. Rohmiller MT, Tylkowski C, Kriss VM, Mier RJ (1999) The effect of osteotomy on bowing and height in children with X-linked hypophosphatemia. J Pediatr Orthop 19:114-118
64. Dudkiewicz I, Schindler A, Ganel A (2003) Elongation of long bones for short stature in patients with hypophosphatemic rickets. Isr Med Assoc J 5:66-67
65. Živičnjak M, Schnabel D, Staude H, Even G, Marx M, Beetz R, Holder M, Billing H, Fischer DC, Rabl W, Schumacher M, Hiort O, Haffner D, Hypophosphatemic Rickets Study Group of the Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie (2011) Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion. J Clin Endocrinol Metab 96:E2097-E2105
66. Cameron FJ, Sochett EB, Daneman A, Kooh SW (1999) A trial of growth hormone therapy in well-controlled hypophosphataemic rickets. Clin Endocrinol (Oxf) 50:577-582
67. Yang HM, Mao M, Yang F, Wan C (2005) Recombinant growth hormone therapy for X-linked hypophosphatemia in children. Cochrane Database Syst Rev CD004447. DOI: 10.1002/14651858.CD004447.pub2
68. Seikaly MG, Brown R, Baum M (1997) The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. Pediatrics 100:879-884
69. Roy S, Martel J, Tenenhouse HS (1997) Growth hormone normalizes renal 1,25-dihydroxyvitamin D3-24-hydroxylase gene expression but not Na+-phosphate cotransporter (Npt2) mRNA in phosphate-deprived Hyp mice. J Bone Miner Res 12:1672-1680
70. Tenenhouse HS, Roy S, Martel J, Gauthier C (1998) Differential expression, abundance, and regulation of Na+-phosphate cotransporter genes in murine kidney. Am J Physiol 275:F527-F534
71. Alon US, Levy-Olomucki R, Moore WV, Stubbs J, Liu S, Quarles LD (2008) Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets. Clin J Am Soc Nephrol 3:658-664
72. Seikaly MG, Waber PG, Baum M (2008) Urinary prostaglandins and the effect of indomethacin on phosphate excretion in children with hypophosphatemic rickets. Pediatr Res 64:210-212
73. Yamashita T, Konishi M, Miyake A, Inui K, Itoh N (2002) Fibroblast growth factor (FGF)-23 inhibits renal phosphate reabsorption by activation of the mitogen-activated protein kinase pathway. J Biol Chem 277:28265-28270
74. Farrow EG, Summers LJ, Schiavi SC, McCormick JA, Ellison DH, White KE (2010) Altered renal FGF23-mediated activity involving MAPK and Wnt: effects of the Hyp mutation. J Endocrinol 207:67-75
75. Zhang MY, Ranch D, Pereira RC, Armbrecht HJ, Portale AA, Perwad F (2012) Chronic inhibition of ERK1/2 signaling improves disordered bone and mineral metabolism in hypophosphatemic (Hyp) mice. Endocrinology 153:1806-1816